One Simple Definition

I sat staring at the discharge papers confused and frustrated. It did not make any sense. I looked up at my little boy who was climbing on the stretcher. “Mom, I’m bored. Can we go home?” he said. Feeling helpless and crazy I knew we had no reason to stay. No one was going to do anymore for us. So I gathered up our things and we left the emergency department. As we waited for the elevator down to the parking garage I watched my son jump from tile to tile following the pattern on the floor. I did not understand. I could not come up with an explanation. This was not the same child who woke up crying in pain. Nor the child who a few hours ago had a leg so contorted he couldn’t walk and who’s primary physician sent him straight to the ER concerned that he had broken his femur. How was it that an hour ago he couldn’t walk and now he was running around happy? I knew the doctors and nurses thought he was faking or trying to get attention. But I had been there and seen his pain and the odd way his body moved. In my heart, I believed my son. But, still, I could think of no way to explain what was happening. I wondered if anyone ever could.

The whole ordeal started when I went into his room in the morning and found him crying. He was sweating and stiff and struggling for his words. “Leg…Hurt,” was all he said. His leg looked misshapen and twisted inward. Despite my best efforts to get him up and dressed, he would not stand. At first I thought maybe he slept on it funny or was having growing pains. But, an hour later, he was still crying and begging for help. So I loaded him in the car and took him to the doctor.

She was kind and concerned and tried everything she could to get him to walk. Her exam yielded no helpful insights. He screamed when she tried to move his leg and he swatted her hand away as she palpated his thigh. Eventually, as a last ditch attempt to make him walk, she pulled out a lollipop. Like most three year olds my son would do almost anything for candy. She placed the sucker across the room on a chair and told him he could have it while the grownups talked, but he would have to go and get it from the chair. He immediately started crying, “I can’t!” But she did not budge and the lollipop remained where it was. Determined, he stood up on his left leg. His right leg twisted and tucked behind his left knee in a way that resembled a flamingo stance. He began his attempt to hop over to the lollipop. But, after one attempt to hop, he let out a screech that brought tears to my eyes and he fell to the ground. With his little hand outstretched toward the chair, he laid on the floor, leg still twisted, and he sobbed. The doctor instructed me to help him up as she walked across the room and picked up the lollipop. She handed it to my son and said, “Here you go buddy. Thank you for trying”. My son cried while ate his lollipop. “In my professional opinion,” she said, “this is not a child who is faking or trying to get attention. I think you need to head to the hospital and get some x-rays of his leg.”

After the x-rays, I sat with my son waiting for the doctor to come examine him. He had finally begun to calm down and was no longer whimpering and crying. I felt a mixture of relief and frustration when he suddenly got up, walked across the room and began playing with the bottle of hand sanitizer sitting on the counter. “You’re walking!” I exclaimed. He smiled and said, “Yeah mom. Doctor fix me. My leg no hurt.” Conflicting emotions overwhelmed me. I was so glad my boy didn’t hurt and I was frustrated because he was fine. I knew now that his leg could not be broken. He was standing and walking fine, pain free. I also knew that he was going to look like a faker and I was going to look like the crazy mom who rushed her kid to the emergency room for nothing. Less than 10 minutes later the doctor was telling me that his images were fine. There was no sign of injury to the leg. She examined him and watched him happily run around the exam room and play. Sympathetically she said, “Sometimes this happens with kids. I think there is nothing to worry about.”

As we pulled into our driveway it started again. The distress cries, “MOM! HELP!” I tried hard to hide my irritation that he was having pain now and not when he was in the ER. When I pulled him out of his car seat there it was. His flamingo leg. Tears rolled down his face and he begged me to make it stop. “Why the doctor no fix me mommy?” he asked though his tears. I picked him up and tried my best to carry him in a way that didn’t make his pain worse. He was sweating and shaking and stiff all over. His right leg was twisted so far inward that it could not be straightened. He could not walk. “I don’t know,” I answered, “But your mommy is going to keep trying to find someone who can help you.” Tears rolling down his face he nodded okay and buried his face in my neck.

It would be more than a year, a dozen trips to the ER, 9 specialist and countless people calling him a faker before we would ever hear the life changing sound of the word, “dystonia.” Now I sit here, two years later, staring at the discharge papers from that day. I found them in an old stack of papers while I was cleaning off my desk. In this moment I truly feel the power of hindsight. I’m shocked. I’m saddened. I’m frustrated. His hospital papers state that his primary care physician examined him and observed a painful twisted posturing of the leg, and that his mother had reported that this as an intermittent problem and that he is unable to walk when it happens. The papers went on to say that x-rays and examinations were normal and no observation of any abnormal posturing was made. My son was discharged and sent home with no prescriptions and no referrals. We were instructed to “follow-up with GP if pain worsens or continues.”

What surprises me most about this little piece of paper was he left the hospital that day with a diagnosis. They just didn’t know it. I didn’t know it. According to the Dystonia Medical Research foundation, dystonia is characterized by “persistent or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. The movements are usually patterned and twisting and may resemble a tremor.” The ER docs description of the events that day all but define dystonia. I can’t help but wonder what would have happened if one doctor or nurse knew the definition? Looking at my happy boy running around, what if they thought, “Intermittent and repetitive limb twisting and posturing…sounds like possible dystonia. We should page neuro and get a consult.”

But that day in the ER, not a single soul knew the definition. No one called neuro. No one gave a referral. No one saw anything other than a little boy seeking attention. And for two more years he suffered. For two years, I watched him cry and I watched him hurt, all because no one knew one simple definition.

Guest Blog Post by Heather Connor:

Originally from The Unites States, Heather has spent the last 11 years in Canada. Two years ago, after a long search that yielded no answers for the cause of her boys mystery symptoms, she gave up her career as a Surgical Device Rep, to focus on getting her kids the care and treatment they needed. Since then, both of her children have been diagnosed with Dystonia, a little known neurological movement disorder that causes painful twisting and contractions of any voluntary muscle in the body. She has found her voice as an advocate for dystonia through her blog "Raising Dystonia".